title: Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
abstract: BACKGROUND
  Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia.
  
  
  METHODS
  Herein we report a boy with both congenital fibrosis of extraocular muscles and aniridia. Sequence analysis of his KIF21A and PAX6 genes reveals a 1-bp deletion (c.745delC) in the PAX6 gene and a missense mutation of c.2860C > T (p.Arg954Trp) in KIF21A.
  
  
  CONCLUSIONS
  This study demonstrates that the occurrence of independent mutations in more than a single gene in a patient may lead to a complex phenotype.
authors.affiliation: Tianjin Eye Hospital, Tianjin, 300022, PR China.
authors.forename: Ming
authors.initials: M
authors.lastname: Ying
authors.forename: Ruifang
authors.initials: R
authors.lastname: Han
authors.forename: Peng
authors.initials: P
authors.lastname: Hao
authors.forename: Liming
authors.initials: L
authors.lastname: Wang
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
mesh_terms: D015783:Aniridia / Q000235:genetics* / Q000473:pathology; D002648:Child; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D005355:Fibrosis; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009801:Oculomotor Muscles / Q000473:pathology*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C119023:KIF21A protein, human; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D016547:Kinesins